Varaico: Literature-Extracted Genetic Variants

Gene:HIRA
Variant:p.L681M
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HIRA

NM_003325.4:p.L681M

Associated Papers

De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Maslennikov D et al.

Clinical Genetics, 2024

Description of novel variants in consanguineous Pakistani families affected with intellectual disability.

Rasool IG et al.

Genes & Genomics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."